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Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

Coughlin, David G.; Bardakjian, Tanya M.; Spindler, Meredith A.; Deik, Andres

Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common.

Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant.

Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported. Additionally, her intellectual disability may constitute a novel phenotype for patients with SGCE variants.

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8J11FRZ

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
April 11, 2018